ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)

gnomAD frequency: 0.00022  dbSNP: rs147351244
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392284 SCV000338186 likely benign not specified 2017-08-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000317863 SCV000464043 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000317863 SCV001000991 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000392284 SCV003923291 uncertain significance not specified 2023-03-19 criteria provided, single submitter clinical testing
GeneDx RCV003441833 SCV004168536 uncertain significance not provided 2023-04-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003920094 SCV004730614 likely benign PKHD1-related disorder 2023-11-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000317863 SCV001455239 uncertain significance Autosomal recessive polycystic kidney disease 2020-01-17 no assertion criteria provided clinical testing

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